Canonical Allele Identifier: CA384642919

Gene: TUBA1A

Linked Data

• ClinVar Variation Id: 992310
• ClinVar RCV Id: RCV001280734
• dbSNP Id: rs1942175909
• MyVariant Identifiers: chr12:g.49579774C>G (hg19) ; chr12:g.49185991C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.49185991C>G , CM000674.2:g.49185991C>G	GRCh38
NC_000012.11:g.49579774C>G , CM000674.1:g.49579774C>G	GRCh37
NC_000012.10:g.47866041C>G	NCBI36
NG_008966.1:g.8088G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301071.12:c.376-1G>C MANE Select	ENSP00000301071.7:n.376-1G>C
ENST00000547939.6:c.271-1G>C	ENSP00000450268.2:n.271-1G>C
ENST00000550767.6:c.271-1G>C	ENSP00000446637.1:n.271-1G>C
ENST00000550811.2:n.1409-1G>C
ENST00000552924.2:c.271-1G>C	ENSP00000448725.2:n.271-1G>C
ENST00000679733.1:c.399-1G>C	ENSP00000505459.1:n.399-1G>C
ENST00000295766.9:c.376-1G>C	ENSP00000439020.2:n.376-1G>C
ENST00000301071.11:c.376-1G>C	ENSP00000301071.7:n.376-1G>C
ENST00000546918.1:c.528-1G>C	ENSP00000446613.1:n.528-1G>C
ENST00000547939.5:c.271-1G>C	ENSP00000450268.1:n.271-1G>C
ENST00000550767.5:c.271-1G>C	ENSP00000446637.1:n.271-1G>C
ENST00000552924.1:c.271-1G>C	ENSP00000448725.1:n.271-1G>C
NM_001270399.1:c.376-1G>C	NP_001257328.1:n.376-1G>C
NM_001270400.1:c.271-1G>C	NP_001257329.1:n.271-1G>C
NM_006009.3:c.376-1G>C	NP_006000.2:n.376-1G>C
NM_006009.4:c.376-1G>C MANE Select	NP_006000.2:n.376-1G>C
NM_001270399.2:c.376-1G>C	NP_001257328.1:n.376-1G>C
NM_001270400.2:c.271-1G>C	NP_001257329.1:n.271-1G>C